ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) (rs778152054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820215 SCV000960916 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys561Leufs*5) in the HPS3 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with HPS3-related disease. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544). For these reasons, this variant has been classified as Pathogenic.
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095689 SCV001251492 likely pathogenic Hermansky-Pudlak syndrome 3 criteria provided, single submitter research HPS3 c.1682_1683delGT (p.C561fs) is a frameshift deletion of two nucleotides that is predicted to result in an nonfunctional HPS3 protein. This variant has not been described previously in the literature.

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